Concepedia

Treatment Responsiveness in KCNT1-Related Epilepsy

Mark P. Fitzgerald, Martina Fiannacca, Douglas M. Smith, Tracy S. Gertler, Boudewijn Gunning, Steffen Syrbe, Nienke E. Verbeek, Hannah Stamberger, Sarah Weckhuysen, Berten Ceulemans,

Neurotherapeutics · 2019 · 103 citations · 14 references

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References

14

De novo gain-of-function KCNT1 channel mutations cause malignant migrating partial seizures of infancy

Giulia Barcia, Matthew R. Fleming, Aline Deligniere et al. · Nature Genetics · 2012 · 528 citations · Full text

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Missense mutations in the sodium-gated potassium channel gene KCNT1 cause severe autosomal dominant nocturnal frontal lobe epilepsy

Sarah E. Heron, Katherine R. Smith, Melanie Bahlo et al. · Nature Genetics · 2012 · 412 citations · Full text

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<i>KCNT1</i>gain of function in 2 epilepsy phenotypes is reversed by quinidine

Carol J. Milligan, Melody Li, Elena V. Gazina et al. · Annals of Neurology · 2014 · 297 citations · Full text

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Targeted treatment of migrating partial seizures of infancy with quinidine

David Bearden, Alanna Strong, Jessica Ehnot et al. · Annals of Neurology · 2014 · 262 citations

, , +17

Quinidine in the treatment of<scp>KCNT</scp>1‐positive epilepsies

Mohamad A. Mikati, Yong‐hui Jiang, Michael P. Carboni et al. · Annals of Neurology · 2015 · 223 citations

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